A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14476347



Internal ID6501444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48516804..48517444hg38UCSC Ensembl
Innerchr12:48516809..48517440hg38UCSC Ensembl
Outerchr12:48516800..48517449hg38UCSC Ensembl
chr12:48910587..48911227hg19UCSC Ensembl
Innerchr12:48910592..48911223hg19UCSC Ensembl
Outerchr12:48910583..48911232hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629438
Supporting Variants
SamplesNA20533
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14476347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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